A44G (p.Ala44Gly) variant of BUB1B (O60566)
A44G (p.Ala44Gly) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- rs747374746
- ClinGen CA268764765
- ClinVar RCV003339068
- Ensembl rs747374746
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.10
- CADD 24.30
- PolyPhen-2 0.66
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)